PDF(Pubmed)
Abstract：
Heritable factors account for approximately 35% of colorectal cancer (CRC) risk, and almost 30% of the population in the UK have a family history of CRC. The quantification of an individual\'s lifetime risk of gastrointestinal cancer may incorporate clinical and molecular data, and depends on accurate phenotypic assessment and genetic diagnosis. In turn this may facilitate targeted risk-reducing interventions, including endoscopic surveillance, preventative surgery and chemoprophylaxis, which provide opportunities for cancer prevention. This guideline is an update from the 2010 British Society of Gastroenterology/Association of Coloproctology of Great Britain and Ireland (BSG/ACPGBI) guidelines for colorectal screening and surveillance in moderate and high-risk groups; however, this guideline is concerned specifically with people who have increased lifetime risk of CRC due to hereditary factors, including those with Lynch syndrome, polyposis or a family history of CRC. On this occasion we invited the UK Cancer Genetics Group (UKCGG), a subgroup within the British Society of Genetic Medicine (BSGM), as a partner to BSG and ACPGBI in the multidisciplinary guideline development process. We also invited external review through the Delphi process by members of the public as well as the steering committees of the European Hereditary Tumour Group (EHTG) and the European Society of Gastrointestinal Endoscopy (ESGE). A systematic review of 10 189 publications was undertaken to develop 67 evidence and expert opinion-based recommendations for the management of hereditary CRC risk. Ten research recommendations are also prioritised to inform clinical management of people at hereditary CRC risk.
摘要：
遗传因素约占结肠直肠癌（CRC）风险的35％，英国近30%的人口有CRC家族史。一个人的胃肠道癌症的终生风险的量化可以结合临床和分子数据，取决于准确的表型评估和基因诊断。反过来，这可能有助于有针对性的降低风险的干预措施，包括内窥镜监测，预防性手术和化学预防，这为预防癌症提供了机会。本指南是2010年英国胃肠病学会/英国和爱尔兰结肠直肠学协会（BSG/ACPGBI）指南的更新，用于中高危人群的结肠直肠筛查和监测。本指南特别关注因遗传因素导致CRC终生风险增加的人群,包括那些患有林奇综合症的人,息肉病或CRC家族史。在这个场合，我们邀请了英国癌症遗传学小组（UKCGG），英国遗传医学学会（BSGM）的一个子小组，作为BSG和ACPGBI在多学科指南开发过程中的合作伙伴。我们还邀请公众成员以及欧洲遗传性肿瘤组织（EHTG）和欧洲胃肠内镜学会（ESGE）的指导委员会通过Delphi程序进行外部审查。对10189份出版物进行了系统审查，为遗传性CRC风险的管理提供了67项证据和基于专家意见的建议。还优先考虑了十项研究建议，以告知遗传性CRC风险人群的临床管理。
